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GRCh37/hg19 17p12(chr17:14087788-15484858)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 5, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002472733.1

Allele description [Variation Report for GRCh37/hg19 17p12(chr17:14087788-15484858)x1]

GRCh37/hg19 17p12(chr17:14087788-15484858)x1

Genes:
  • CDRT15:CMT1A duplicated region transcript 15 [Gene - HGNC]
  • CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
  • TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
  • COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]
  • HS3ST3B1:heparan sulfate-glucosamine 3-sulfotransferase 3B1 [Gene - OMIM - HGNC]
  • PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
  • TEKT3:tektin 3 [Gene - OMIM - HGNC]
  • TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p12
Genomic location:
Chr17: 14087788 - 15484858 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17p12(chr17:14087788-15484858)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002772601Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Apr 5, 2022)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002772601.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The deletion of 17p12 includes the PMP22 (OMIM 601097), and it is associated with hereditary neuropathy with liability to pressure palsies (HNPP)(OMIM 162500), an autosomal dominant disorder characterized by repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. Common presenting symptoms occur in adolescence or young adulthood. Approximately 80% of individuals with HNPP have inherited the pathogenic variant, however, some carriers of the deletion have few or no symptoms. See GeneReviews for additional information and references www.ncbi.nlm.nih.gov/books/NBK1392/.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 31, 2022